ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1038C>T (p.Ser346=)

gnomAD frequency: 0.00002  dbSNP: rs772423521
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001524944 SCV001734927 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-01-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008808 SCV004826796 likely benign Ehlers-Danlos syndrome, type 4 2023-03-23 criteria provided, single submitter clinical testing

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